2022年4月19日
;98 (16)
科学杂志
Oculodentodigital发育不良
成人的一个原因Hypomyelinating脑白质营养不良
第一次出版2022年2月21日,
DOI: https://doi.org/10.1212/WNL.0000000000200228
Mackenzie a Michell-Robinson
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
斯蒂芬妮毕雷矿泉水
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
卡桑德拉·露西亚
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
烹调的菜肴t Tran
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
伊莎贝尔Thiffault
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
沃尔夫冈•科勒
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
吉纳维芙伯纳德
神经病学与神经外科的部门(M.A.M.-R。首页,……,中一段,L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.
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一个中年患者出现轻度面部先天性畸形,小牙釉质发育不全,进步步态障碍,记忆问题,和历史并指,在儿童早期纠正。MRI显示hypomyelination模式兼容oculodentaldigital发育不良(ODDD)1、2(图1)。眼科研究结果显示两国近视严重。外显子组测序揭示了杂合的GJA1错义变体(p.Gly138Asp)。患者的母亲(已故)发展缓慢进步神经退化,共济失调,癫痫发作。MRI(80岁)显示广泛leukodystrophic变化(图2)。ODDD诊断往往是错过,突出临床怀疑的重要性,磁共振成像,和分子检测在成人患者的面部,牙科,神经系统的临床特征。
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去首页Neurology.org/N为充分披露。资金信息和披露认为作者相关的,如果有的话,年底提供这篇文章。
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